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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:selective pituitary thyroid hormone resistance
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Accession:DOID:0111374 term browser browse the term
Definition:A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: PRTH;   familial hyperthyroidism due to inappropriate thyrotropin secretion;   pituitary resistance to thyroid hormone;   selective pituitary resistance to thyroid hormone
 primary_id: MESH:C564154
 alt_id: OMIM:145650
 xref: ORDO:165994
For additional species annotation, visit the Alliance of Genome Resources.


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selective pituitary thyroid hormone resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by OMIM:145650
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Thyroid hormone resistance, selective pituitary
OMIM
ClinVar
PMID:1159077 PMID:1400873 PMID:8013151 PMID:8040303 PMID:8381821 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        thyroid gland disease 361
          hyperthyroidism 101
            selective pituitary thyroid hormone resistance 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                selective pituitary thyroid hormone resistance 1
paths to the root